Roche Nimblegen has launched Sequence Capture 2.1M Human Exome microarrays, built on the HD2 platform, which allows researchers to capture all exons in the genome on a single array.
Coupled with the Genome Sequencer FLX system from 454 Life Sciences, researchers now have the capability to assess genetic variation within the exome of any individual.
Human exome sequencing is considered by many researchers to be the ultimate method for re-sequencing that will lead to significant biomedical breakthroughs.
Exons are the most functionally relevant portion of the genome and are comprised of short segments of DNA that provide the genetic blueprint for proteins.
As such, exome sequencing enables the discovery of much of the functional variation that is responsible for many common and rare diseases (for example, cancer and Alzheimer's).
Exome sequencing research is also expected to shed light on why diseases such as diabetes occur more often in certain populations, and can help uncover why drugs are effective only in a subset of the individuals or population.
Prior to the release of Nimblegen Sequence Capture Human Exome microarrays, the sequencing of the exome was neither technically nor economically feasible.
In 2009, the technologies of Roche Nimblegen's Sequence Capture and the 454 Sequencing System have made complete human exome sequencing a reality, and can ultimately produce technology to feed the research pipeline and nourish the development of personalised healthcare.
'These types of technologies, and the data and knowledge they provide are expected to allow comprehensive understanding of any information from the genome and enable personalised healthcare strategies for diagnosis, prevention and treatment,' said Gerd Maass, chief executive officer of Roche Nimblegen.
Nimblegen Sequence Capture Human Exome microarrays are an integrated solution when used with the GS FLX Titanium series kits from 454 Life Sciences.
The Sequence Capture arrays are optimised for subsequent ultra-high throughput sequencing with the GS FLX Titanium series kits and enable accurate detection of genomic variation.
The GS FLX Titanium chemistry expands upon the previous series by providing researchers with a sequencing power of more than 400bp sequencing reads and over one million reads per run.
The 454 Sequencing system also includes dedicated analysis tools for mapping reads and detecting variants from data of captured DNA from Nimblegen arrays.
The Human Exome Array targets around 180,000 human protein coding exons and about 700 MiRNA exons using 2.1 million long oligonucleotide probes (>60mer) on a single microarray.
The array design is based on the 30 April 2008 build of the Consensus CDS (CCDS) database project, which represents a collaborative effort to identify a core set of high-quality human and mouse protein coding regions.
